QueryOr

QueryOr prioritizes genetic variants from whole genome and exome sequencing to identify candidate genes and gene-disease associations.

Key Features:

• Flexible Data Management: Operates on a general XML schema to accommodate various data formats and criteria.
• User-Selectable Criteria: Provides up to 70 customizable criteria encompassing gene- and variant-level features.
• Global Positive Selection Process: Implements a prioritization method that considers all transcript isoforms and avoids stepwise elimination of variants.
• Inheritance and Shared-Variant Handling: Supports analysis of different inheritance patterns and shared variant features among patients.
• Sequencing Data Support: Accepts variant data derived from whole genome and exome sequencing projects.
• Study-Scale Support: Supports analyses of single patients, families, and larger cohorts.

Scientific Applications:

• Candidate gene identification: Identify candidate genes associated with specific diseases from sequencing-derived variant data.
• Novel gene-disease association discovery: Discover novel gene-disease associations that may not be apparent through traditional stepwise analyses.
• Variant prioritization for validation: Prioritize variants for further experimental validation or clinical investigation.

Methodology:

Operates on a general XML schema; applies up to 70 customizable gene- and variant-level criteria; employs a global positive selection process across all transcript isoforms that avoids stepwise elimination; processes variant data from whole genome and exome sequencing and supports analysis across inheritance patterns and shared variants among patients.